The National Ataxia Foundation (NAF) is intensifying efforts to accelerate drug development and improve quality of life for people living with ataxia, a complex group of rare neurological disorders that affect movement, coordination and balance.
Founded in the late 1950s by a neurologist in Minnesota whose family was impacted by the disease, NAF has spent decades investing in basic and translational research.
According to Andrew Rosen, CEO of NAF, those long-term investments are now beginning to pay off.
“Our mission has two sides,” Rosen explained in an interview with Xtalks. “One is accelerating the development of treatments and a cure. The other is supporting patients and families living with ataxia.”
From Basic Science to the Clinic
Ataxia encompasses hundreds of distinct hereditary and acquired conditions, many of which affect the cerebellum. While the diversity of diseases has historically posed challenges, decades of research have helped clarify the underlying disease mechanisms.
That foundational science has spurred pharmaceutical industry interest in the ataxias over the last 10 years, driving translational research and momentum in getting potential treatments into the clinic.
A major milestone came in 2023, when the FDA approved the first-ever treatment for the ataxia subtype Friedreich’s ataxia.
Friedreich’s ataxia typically begins in childhood or adolescence, causing progressive loss of coordination and balance and often leading to heart complications. Most patients experience worsening mobility over time, often requiring a wheelchair in early adulthood, and many die prematurely in their 30s, most commonly from heart-related complications.
Other types of ataxia, such as spinocerebellar ataxia, or SCA, tend to be later onset and slower progressing. “The challenging part there is you may have already had kids by that point and even unknowingly passed this disease onto them,” explained Rosen.
With continuing pharmaceutical industry interest in rare neurological diseases, new therapies for ataxia are advancing in development.
“Our goal is to put ourselves out of business,” he added. “If we could cure ataxia, we’d happily be done.”
Supporting a Diverse and Global Community
Beyond research, NAF plays a central role in patient and family support. The organization manages and supports more than 60 volunteer-led support groups across the US and hosts the largest annual ataxia patient and family conference, which regularly draws 600 to 700 attendees.
Educational webinars and online programming help bridge geographic gaps for a nationally, and increasingly globally, distributed community.
Raising Awareness
Although ataxia is classified as a movement disorder, it remains far less recognized than better known conditions such as Parkinson’s disease, ALS or Huntington’s disease. Public figures like Bill Nye the Science Guy have helped amplify awareness in recent years.
But while Parkinson’s affects millions (and hence not a rare disease) and has benefited from widespread public recognition due to figures like Michael J. Fox, ataxia remains far less visible, explained Rosen.
“We’re trying to change that narrative, and that’s where someone like Bill and his massive reach makes a big difference for us. It’s been fun working with him.”
Drug Development Challenges in Rare Disease
Despite progress, Rosen emphasized that bringing ataxia therapies to market remains difficult. Recruiting enough patients for clinical trials is a persistent challenge, particularly because each ataxia subtype affects a relatively small population. Slow disease progression further complicates trial design, requiring long study durations to demonstrate meaningful benefit.
There’s also the issue of clinical endpoints and biomarkers. The field is eager to identify more objective biomarkers, measurable indicators in the blood, spinal fluid or elsewhere, that can reliably track disease progression, explained Rosen. To date, effective biomarkers for ataxias have yet to be identified.
Regulatory hurdles add another layer of complexity. Rosen noted that traditional FDA approval gold standards, such as requiring at least two large placebo-controlled trials, are often impractical for rare diseases.
“Rare diseases need to be evaluated differently than more common diseases,” he said, adding that recent leadership turnover and inconsistency at the FDA have raised concerns across the advocacy community.
Collaboration as a Force Multiplier
To overcome these challenges, NAF works closely with a wide network of advocacy organizations. Key partnerships include the Friedreich’s Ataxia Research Alliance (FARA), with which NAF conducts joint advocacy efforts in Washington, DC.
Together, the organizations successfully pushed for ataxia to be included in the Congressionally Directed Medical Research Program (CDMRP), unlocking access to substantial funding, in the hundreds of millions of dollars, for research. NAF has worked with FARA to have hereditary ataxias added to the approved list of conditions eligible for research funding through the CDMRP.
The foundation also works with national lobbying organizations like the National Organization for Rare Disorders (NORD) and the EveryLife Foundation, relying on them for legislation to assist the rare disease community as well as the disabled community, supporting each other’s efforts.
NAF also collaborates with international groups such as Ataxia UK.
Rosen also said working with other rare disease patient advocacy organizations outside of the ataxias is also important. “Our voices combined are louder and stronger than each of us individually.”
As scientific understanding deepens and advocacy efforts expand, Rosen remains cautiously optimistic that the ataxia community is entering a pivotal period, one where long-standing research investments may finally translate into meaningful treatments for patients worldwide.
Comments
Add a comment